Linked Data
ClinVar Variation Id:
184710
ClinVar RCV Id:
RCV000164013
RCV000679396
RCV000781665
RCV001083508
RCV001126127
RCV001126128
RCV001126129
dbSNP Id:
rs140994965
ExAC:
17:29653051 C / T
gnomAD v2:
17-29653051-C-T
gnomAD v3:
17-31326033-C-T
gnomAD v4:
17-31326033-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31326033C>T , CM000679.2:g.31326033C>T | GRCh38 |
| NC_000017.10:g.29653051C>T , CM000679.1:g.29653051C>T | GRCh37 |
| NC_000017.9:g.26677177C>T | NCBI36 |
| NG_009018.1:g.236057C>T , LRG_214:g.236057C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000581113.7:c.1237C>T | ENSP00000492721.2:n.1237C>T | |
| ENST00000696138.1:c.5031C>T | ENSP00000512431.1:p.Asn1677= | |
| ENST00000684826.1:c.-388C>T | ENSP00000509994.1:n.-388C>T | |
| ENST00000687027.1:c.-455C>T | ENSP00000508715.1:n.-455C>T | |
| ENST00000687863.1:n.1694C>T | ||
| ENST00000691014.1:c.5079C>T | ENSP00000510595.1:p.Asn1693= | |
| ENST00000693617.1:c.-388C>T | ENSP00000510031.1:n.-388C>T | |
| ENST00000358273.9:c.5049C>T MANE Select | ENSP00000351015.4:p.Asn1683= | |
| ENST00000356175.7:c.4986C>T | ENSP00000348498.3:p.Asn1662= | |
| ENST00000358273.8:c.5049C>T | ENSP00000351015.4:p.Asn1683= | |
| ENST00000456735.6:c.3984C>T | ENSP00000389907.2:p.Asn1328= | |
| ENST00000493220.5:n.3522C>T | ||
| ENST00000579081.5:c.5185C>T | ENSP00000462408.1:n.5185C>T | |
| ENST00000581113.6:n.366C>T | ||
| NM_000267.3:c.4986C>T , LRG_214t1:c.4986C>T | NP_000258.1:p.Asn1662= | |
| NM_001042492.2:c.5049C>T , LRG_214t2:c.5049C>T | NP_001035957.1:p.Asn1683= | |
| XM_005257983.1:c.5049C>T | XP_005258040.1:p.Asn1683= | |
| XM_005257984.1:c.4986C>T | XP_005258041.1:p.Asn1662= | |
| XM_006721922.1:c.5079C>T | XP_006721985.1:p.Asn1693= | |
| XM_006721923.2:c.5040C>T | XP_006721986.1:p.Asn1680= | |
| XM_006721924.1:c.5079C>T | XP_006721987.1:p.Asn1693= | |
| XM_006721925.1:c.5016C>T | XP_006721988.1:p.Asn1672= | |
| XM_006721926.2:c.5079C>T | XP_006721989.1:p.Asn1693= | |
| XM_006721927.1:c.5079C>T | XP_006721990.1:p.Asn1693= | |
| XM_011524852.1:c.5076C>T | XP_011523154.1:p.Asn1692= | |
| XM_011524853.1:c.5040C>T | XP_011523155.1:p.Asn1680= | |
| XM_011524854.1:c.5040C>T | XP_011523156.1:p.Asn1680= | |
| XM_011524855.1:c.5040C>T | XP_011523157.1:p.Asn1680= | |
| XM_011524856.1:c.5040C>T | XP_011523158.1:p.Asn1680= | |
| XM_011524857.1:c.5079C>T | XP_011523159.1:p.Asn1693= | |
| NM_001042492.3:c.5049C>T MANE Select | NP_001035957.1:p.Asn1683= |